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European Cystinosis Cohort

France, Belgium, Italy...and 3 more, 2017 - 2028
Reference ID
FRESH-PEF73378-en
Producer(s)
Aude;SERVAIS
Metadata
DDI/XML JSON
Study website Interactive tools
Created on
Feb 18, 2026
Last modified
Sep 23, 2026
Page views
42
  • Identification
  • Scope
  • Coverage
  • Producers and sponsors
  • Study authorization
  • Sampling
  • Survey instrument
  • Data collection
  • Study activities
  • Quality standards
  • Data Access
  • Contacts

    • Identification

    Survey ID number

    FRESH-PEF73378-en
    Title

    European Cystinosis Cohort
    Abbreviation or Acronym

    RaDiCo-ECYSCO
    Country
    Name Country code
    France fr
    Belgium be
    Italy it
    Spain es
    Netherlands nl
    Germany de
    Kind of Data

    ['Clinical data','Biological data','Socio-demographic data','Participant-reported health data']
    Unit of Analysis

    Individuals

    Scope

    Topics
    Topic Vocabulary
    Ophthalmology health theme
    Paediatrics health theme
    Nephrology health theme
    Disorders of tyrosine metabolism cim-11
    Socio-demographic and economic determinants health determinant
    Biological determinants: Genetic predisposition health determinant
    Behavioral determinants health determinant
    Healthcare system determinants: Use of care health determinant
    Biological determinants health determinant
    Healthcare system determinants health determinant
    Keywords
    Renal Diseases Effects of treatments Rare diseases Quality of life

    Coverage

    Universe

    {"level_sex_clusion_I":[{"value":"Male","concept":{"vocab":"MeSH","vocabURI":"D008297"}},{"value":"Female","concept":{"vocab":"MeSH","vocabURI":"D005260"}}],"level_age_clusion_I":[{"value":"Infant (28 days to 2 years)","concept":{"vocab":"MeSH","vocabURI":"D007223"}},{"value":"Child, Preschool (2 to 5 years)","concept":{"vocab":"MeSH","vocabURI":"D002675"}},{"value":"Child (6 to 12 years)","concept":{"vocab":"MeSH","vocabURI":"D002648"}},{"value":"Adolescent (13 to 18 years)","concept":{"vocab":"MeSH","vocabURI":"D000293"}},{"value":"Young Adult (19 to 24 years)","concept":{"vocab":"MeSH","vocabURI":"D055815"}},{"value":"Adult (25 to 44 years)","concept":{"vocab":"MeSH","vocabURI":"D000328"}},{"value":"Middle Aged (45 to 64 years)","concept":{"vocab":"MeSH","vocabURI":"D008875"}},{"value":"Aged (65 to 79 years)","concept":{"vocab":"MeSH","vocabURI":"D000368"}},{"value":"Aged, 80 and over (80 years and more)","concept":{"vocab":"MeSH","vocabURI":"D000369"}}],"level_type_clusion_I":"Patients population","level_type_clusion_other":"","clusion_I":"The RaDiCo-ECYSCO Cohort inclusion criteria are the following: • Confirmed diagnosis of cystinosis (based on cystine dosage and/or presence of crystals at eye examination and/or molecular diagnosis) • Signed informed consent ","clusion_E":" Patients not able to give their informed consent. No othercriteria (patients with associated disease should be enrolled)"}

    Producers and sponsors

    Primary investigators
    Name
    Aude;SERVAIS
    Producers
    Name Role
    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) sponsor
    Funding Agency/Sponsor
    Name
    AGENCE NATIONALE DE LA RECHERCHE (ANR)
    Other Identifications/Acknowledgments
    Name
    Healthcare Network for Rare Diseases Orkid / European Reference Network ERK-NET

    Study authorization

    Agency
    Agency name
    CNIL
    CESREES

    Sampling

    Sample frame

    Unit Type

    ['Through organizations (health services or institutions, schools, businesses, etc.)']
    Sampling Procedure

    ['{"concept":{"vocabURI":"Other","vocab":"CESSDA"},"value":"Other"}']

    Survey instrument

    Questionnaires

    Access on specific project only
    Methodology notes

    Observational Study

    Data collection

    Dates of Data Collection
    Start End
    2017-01-01 2028-01-01
    Mode of data collection
    • {"concept":{"vocabURI":"Transcription","vocab":"CESSDA"},"value":"Converting or copying information into a structured record"}

    Study activities

    Study activities
    Type
    primary evaluation
    Description
    Health event/morbidity Health event/mortality Quality of life/health perception

    Quality standards

    Quality standards
    Standard
    ['HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs)']
    Other quality statement

    ['Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system']

    Data Access

    Access conditions

    Access Charter. Access requests to RaDiCo-ECYSCO data (rough / structured), or to analytic reports will be examined by the scientific committee following submission of a Specific Research Project (SRP) synopsis, as defined in the Resource Access Charter.
    Availability Status

    {"value":"Restricted access","extLink":[{"title":"COAR","uri":"http://purl.org/coar/access_right/c_16ec"}]}

    Contacts

    Contacts
    Name Email
    Aude;SERVAIS aude.servais@aphp.fr
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